| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132963038G>A | CA4884537 | TG | c.5512G>A (p.Asp1838Asn) c.45G>A c.878G>A c.2167G>A c.5320G>A (p.Asp1774Asn) c.5446G>A (p.Asp1816Asn) c.5341G>A (p.Asp1781Asn) c.5293G>A (p.Asp1765Asn) c.5251G>A (p.Asp1751Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132963038G= | CA1821029264 | TG | c.5512G= (p.Asp1838=) c.45G= c.878G= c.2167G= c.5320G= (p.Asp1774=) c.5446G= (p.Asp1816=) c.5341G= (p.Asp1781=) c.5293G= (p.Asp1765=) c.5251G= (p.Asp1751=) | dbSNP dbSNP |